Papillary carcinoma of the corpus uteri
diseaseOn this page
Also known as body of uterus papillary carcinomaendometrial capillary carcinoma
Summary
Papillary carcinoma of the corpus uteri (MONDO:0016268) is a cancer with 2 cohort genes (2 CIViC-evidence somatic drivers; 3 ClinVar predisposition records).
At a glance
- Classification: Cancer
- Cohort genes: 2
- ClinVar variants: 3
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | papillary carcinoma of the corpus uteri |
| Mondo ID | MONDO:0016268 |
| Orphanet | 213726 |
| UMLS | C5679804 |
| MedGen | 1805139 |
| GARD | 0020481 |
| Anatomy (UBERON) | UBERON:0009853 |
| Is cancer (heuristic) | yes |
Also known as: body of uterus papillary carcinoma · endometrial capillary carcinoma
Data availability: 3 ClinVar variants.
Disease family
Classification path: human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › cancer › reproductive system cancer › female reproductive organ cancer › uterine cancer › uterine carcinoma › papillary carcinoma of the corpus uteri
Related subtypes (8): endometrial carcinoma, uterus carcinoma in situ, cervical carcinoma, endometrial serous adenocarcinoma, squamous cell carcinoma of the corpus uteri, undifferentiated carcinoma of the corpus uteri, adenoid cystic carcinoma of the corpus uteri, transitional cell carcinoma of the corpus uteri
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
ClinVar germline variants
3 retrieved; paginated sample, class counts are floors:
2 pathogenic, 1 pathogenic/likely pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 455291 | NM_000179.3(MSH6):c.3818dup (p.Asn1273fs) | FBXO11 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 1879468 | NM_000179.3(MSH6):c.3776_3777insAACA (p.Asn1259fs) | MSH6 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 237193 | NM_000179.3(MSH6):c.3477C>G (p.Tyr1159Ter) | MSH6 | Pathogenic | criteria provided, multiple submitters, no conflicts |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 3 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Somatic driver evidence (intOGen + CIViC, cohort fanout)
| Gene | intOGen role | Cancer types | CIViC |
|---|---|---|---|
| FBXO11 | LoF | BL,MLYM,NHL | CIViC #15318 |
| MSH6 | CIViC #2478 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| FBXO11 | Orphanet:528084 | Non-specific syndromic intellectual disability |
| MSH6 | Orphanet:144 | Lynch syndrome |
| MSH6 | Orphanet:252202 | Constitutional mismatch repair deficiency syndrome |
Cohort genes → proteins
2 cohort genes, 2 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 2 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| FBXO11 | HGNC:13590 | ENSG00000138081 | Q86XK2 | F-box only protein 11 | clinvar |
| MSH6 | HGNC:7329 | ENSG00000116062 | P52701 | DNA mismatch repair protein Msh6 | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| FBXO11 | F-box only protein 11 | Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins, such as DTL/CDT2, BCL6, SNAI1 and PRDM1/BLI… |
| MSH6 | DNA mismatch repair protein Msh6 | Component of the post-replicative DNA mismatch repair system (MMR). |
Protein-family classification
Druggable: 0 · Difficult: 1 · Unknown: 1 · Druggable fraction: 0.0
Family distribution
Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.
| Family | Genes | Fold | FDR |
|---|---|---|---|
| Transcription factor | 1 | 4.1× | 0.455 |
| Other/Unknown | 1 | 0.9× | 0.805 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| FBXO11 | Transcription factor | no | F-box_dom, Znf_UBR, PbH1 | |
| MSH6 | Other/Unknown | no | PWWP_dom, DNA_mismatch_repair_MutS_C, DNA_mismatch_repair_MutS-lik_N |
Expression context
Cohort genes with no expression data: 0.
2 cohort genes are a single-cell marker in ≥1 SCXA experiment.
Breadth distribution (Bgee present_calls)
| Bucket | Genes |
|---|---|
| narrow (1-5 tissues) | 0 |
| moderate (6-20) | 0 |
| broad (>20) | 2 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| ganglionic eminence | 2 |
| ventricular zone | 2 |
| cortical plate | 1 |
| embryo | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| FBXO11 | 287 | ubiquitous | marker | cortical plate, ganglionic eminence, ventricular zone |
| MSH6 | 293 | ubiquitous | marker | ventricular zone, embryo, ganglionic eminence |
Protein interactions among cohort
Intra-cohort edges: 1.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| MSH6 | 4,091 |
| FBXO11 | 2,000 |
Intra-cohort edges
| A | B | Sources |
|---|---|---|
| FBXO11 | MSH6 | string_interaction |
Structural data
PDB: 2 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| MSH6 | P52701 | 8 |
| FBXO11 | Q86XK2 | 1 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 10. Enrichment computed across 2 evidence-associated genes (2 with Reactome annotation).
Pathways by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| Defective Mismatch Repair Associated With MSH6 | 1 | 2855.0× | 0.002 | MSH6 |
| Defective Mismatch Repair Associated With MSH2 | 1 | 1903.3× | 0.002 | MSH6 |
| Mismatch Repair | 1 | 1427.5× | 0.002 | MSH6 |
| Diseases of Mismatch Repair (MMR) | 1 | 1427.5× | 0.002 | MSH6 |
| Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) | 1 | 407.9× | 0.005 | MSH6 |
| Diseases of DNA repair | 1 | 285.5× | 0.006 | MSH6 |
| DNA Repair | 1 | 49.2× | 0.029 | MSH6 |
| Neddylation | 1 | 23.7× | 0.052 | FBXO11 |
| Antigen processing: Ubiquitination & Proteasome degradation | 1 | 18.6× | 0.059 | FBXO11 |
| Disease | 1 | 6.5× | 0.147 | MSH6 |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| meiotic mismatch repair | 1 | 8426.0× | 0.002 | MSH6 |
| somatic recombination of immunoglobulin gene segments | 1 | 2106.5× | 0.004 | MSH6 |
| negative regulation of DNA recombination | 1 | 561.7× | 0.009 | MSH6 |
| somatic hypermutation of immunoglobulin genes | 1 | 526.6× | 0.009 | MSH6 |
| isotype switching | 1 | 421.3× | 0.009 | MSH6 |
| mismatch repair | 1 | 324.1× | 0.009 | MSH6 |
| determination of adult lifespan | 1 | 216.1× | 0.010 | MSH6 |
| negative regulation of epithelial to mesenchymal transition | 1 | 205.5× | 0.010 | FBXO11 |
| response to UV | 1 | 183.2× | 0.010 | MSH6 |
| intrinsic apoptotic signaling pathway | 1 | 179.3× | 0.010 | MSH6 |
| intrinsic apoptotic signaling pathway in response to DNA damage | 1 | 162.0× | 0.010 | MSH6 |
| sensory perception of sound | 1 | 50.5× | 0.030 | FBXO11 |
| regulation of apoptotic process | 1 | 41.7× | 0.033 | FBXO11 |
| ubiquitin-dependent protein catabolic process | 1 | 37.1× | 0.034 | FBXO11 |
| DNA repair | 1 | 31.9× | 0.037 | MSH6 |
| proteasome-mediated ubiquitin-dependent protein catabolic process | 1 | 26.1× | 0.043 | FBXO11 |
| protein ubiquitination | 1 | 20.7× | 0.051 | FBXO11 |
| spermatogenesis | 1 | 17.6× | 0.056 | MSH6 |
Therapeutics
Drug target analysis
Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 1 · Undrugged: 1
Druggability breadth: 2 of 2 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| MSH6 | 1 | 2 |
| FBXO11 | 0 | 0 |
Drugs targeting cohort genes (top 30)
| Molecule | Max phase | Targets in cohort |
|---|---|---|
| MOLIBRESIB | 2 | MSH6 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 0.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| MSH6 | 10 | Binding:10 |
| FBXO11 | 2 | Binding:2 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 2; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Drug repurposing candidates
1 approved/phased drugs hit cohort targets but don’t yet appear in disease-level clinical trials. Target-inhibition rationale is strongest for cancer driver genes; a bioactivity hit is a screening signal, not a treatment claim.
| Compound | Max phase | Cohort target (bioactivity) |
|---|---|---|
| MOLIBRESIB | 2 | MSH6 |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 0 | |
| B | Phased (≥1) drug, not yet approved | 1 | MSH6 |
| C | Druggable family + PDB, no drug | 0 | |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 1 | FBXO11 |
Undrugged target profiles
1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| FBXO11 | 2 | MSH6 |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.